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EP3194627A4 - Methods and systems for analyzing nucleic acid sequencing data - Google Patents

Methods and systems for analyzing nucleic acid sequencing data Download PDF

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Publication number
EP3194627A4
EP3194627A4 EP15842246.9A EP15842246A EP3194627A4 EP 3194627 A4 EP3194627 A4 EP 3194627A4 EP 15842246 A EP15842246 A EP 15842246A EP 3194627 A4 EP3194627 A4 EP 3194627A4
Authority
EP
European Patent Office
Prior art keywords
systems
methods
nucleic acid
sequencing data
acid sequencing
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Granted
Application number
EP15842246.9A
Other languages
German (de)
French (fr)
Other versions
EP3194627C0 (en
EP3194627B1 (en
EP3194627A1 (en
Inventor
Jocelyne BRUAND
Johann Felix SCHLESINGER
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Illumina Inc
Original Assignee
Illumina Inc
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Filing date
Publication date
Application filed by Illumina Inc filed Critical Illumina Inc
Publication of EP3194627A1 publication Critical patent/EP3194627A1/en
Publication of EP3194627A4 publication Critical patent/EP3194627A4/en
Application granted granted Critical
Publication of EP3194627C0 publication Critical patent/EP3194627C0/en
Publication of EP3194627B1 publication Critical patent/EP3194627B1/en
Active legal-status Critical Current
Anticipated expiration legal-status Critical

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Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B45/00ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks

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  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Data Mining & Analysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
EP15842246.9A 2014-09-18 2015-09-15 Methods and systems for analyzing nucleic acid sequencing data Active EP3194627B1 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201462052189P 2014-09-18 2014-09-18
PCT/US2015/050129 WO2016044233A1 (en) 2014-09-18 2015-09-15 Methods and systems for analyzing nucleic acid sequencing data

Publications (4)

Publication Number Publication Date
EP3194627A1 EP3194627A1 (en) 2017-07-26
EP3194627A4 true EP3194627A4 (en) 2018-05-30
EP3194627C0 EP3194627C0 (en) 2023-08-16
EP3194627B1 EP3194627B1 (en) 2023-08-16

Family

ID=55525984

Family Applications (1)

Application Number Title Priority Date Filing Date
EP15842246.9A Active EP3194627B1 (en) 2014-09-18 2015-09-15 Methods and systems for analyzing nucleic acid sequencing data

Country Status (9)

Country Link
US (2) US20160085910A1 (en)
EP (1) EP3194627B1 (en)
JP (1) JP6802154B2 (en)
KR (1) KR102538753B1 (en)
CN (1) CN107002121B (en)
AU (1) AU2015318017B2 (en)
CA (1) CA2960840A1 (en)
SA (1) SA517381091B1 (en)
WO (1) WO2016044233A1 (en)

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CN111292809B (en) * 2020-01-20 2021-03-16 至本医疗科技(上海)有限公司 Method, electronic device, and computer storage medium for detecting RNA level gene fusion
CN111326213B (en) * 2020-02-20 2023-10-03 苏州金唯智生物科技有限公司 Data analysis method, device, equipment and storage medium
JP2024507168A (en) * 2021-02-12 2024-02-16 ベロジェン・インコーポレイテッド Methods and compositions for DNA-based kinship analysis
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Also Published As

Publication number Publication date
EP3194627C0 (en) 2023-08-16
KR102538753B1 (en) 2023-05-31
WO2016044233A1 (en) 2016-03-24
JP2017528140A (en) 2017-09-28
US20160085910A1 (en) 2016-03-24
SA517381091B1 (en) 2021-03-31
KR20170056682A (en) 2017-05-23
JP6802154B2 (en) 2020-12-16
AU2015318017A1 (en) 2017-03-30
AU2015318017B2 (en) 2022-02-03
CA2960840A1 (en) 2016-03-24
CN107002121A (en) 2017-08-01
EP3194627B1 (en) 2023-08-16
CN107002121B (en) 2020-11-13
EP3194627A1 (en) 2017-07-26
US20210375396A1 (en) 2021-12-02

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